Metadata | |
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ID | DOID:0080219 |
Name | dystransthyretinemic hyperthyroxinemia |
Definition | A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/1979335/ |
Xrefs | |
Parent Relationships |
is_a autosomal dominant disease is_a hyperthyroxinemia |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |